KLHL24 associated cardiomyopathy: Gene function to clinical management.

Background: KLHL24 (Kelch-like protein 24) is a significant component of the ubiquitin-proteasome system (UPS), involved in regulating protein turnover through targeted ubiquitination and degradation. Germline mutations in KLHL24 gene have been known to cause Epidermolysis Bullosa Simplex characterized by skin fragility but has recently been found to cause Cardiomyopathy.

Main Body: Various cardiomyopathies, including hypertrophic cardiomyopathy and dilated cardiomyopathy, leading to abnormal protein degradation and affecting the stability and function of essential cardiac proteins which finally results into structural and functional abnormalities in cardiac muscle.

The Role of NAD Metabolism in Cardiovascular Diseases: Mechanisms and Prospects.

Nicotinamide adenine dinucleotide (NAD) is a promising anti-aging molecule that plays a role in cellular energy metabolism and maintains redox homeostasis. Additionally, NAD is involved in regulating deacetylases, DNA repair enzymes, inflammation, and epigenetics, making it indispensable in maintaining the basic functions of cells. Research on NAD has become a hotspot, particularly regarding its potential in cardiovascular disease (CVD).

Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant.

DSG2, encoding desmoglein-2, is one of the causative genes of arrhythmogenic cardiomyopathy. We previously identified a homozygous DSG2 p.Arg119Ter stop-gain variant in a patient with juvenile-onset cardiomyopathy and advanced biventricular heart failure.

Association between cathepsins and cardiomyopathy: A Mendelian randomization study.

Research suggests that cathepsins, due to their extensive mechanisms of action, may play a crucial role in cardiomyopathies. However, further studies are necessary to establish causality. This study aims to investigate the causal relationship between cathepsins and various types of cardiomyopathies.

Heart Failure Is Closely Associated With the Expression Characteristics of Type I Interferon-Related Genes.

Background: The association between the expression of type I interferon related genes (TIIRGs) and EFrHF is not well understood. This study aimed to investigate the correlation between the expression patterns of TIIRGs and EFrHF using bioinformatics analysis.

Materials And Methods: An analysis was conducted to examine the expression and distribution of TIIRGs in cardiomyocytes.

Viral Myocarditis.

Viral myocarditis is associated with the development of dilated cardiomyopathy (DCM), left ventricular dysfunction, and heart failure. This review addresses the mechanisms of viral myocarditis and its treatment.

Assessment of myocardial function in Retrievers with dilated cardiomyopathy using 2D speckle tracking echocardiography: a pilot study.

Early diagnosis of canine dilated cardiomyopathy (DCM) is complicated by the presence of a prolonged asymptomatic phase, for which a comprehensive evaluation of myocardial function is essential. This pilot study was conducted to evaluate the myocardial function in dogs with DCM using two-dimensional speckle tracking echocardiography (2D-STE). Nine client-owned Retrievers with DCM and twelve client-owned clinically normal Retrievers were comparatively evaluated using standard echocardiography and 2D-STE.

[Network Meta-analysis of comparative efficacy of Chinese medicine injections for dilated cardiomyopathy].

Bayesian network Meta-analysis was conducted to assess the efficacy and safety of different Chinese medicine injections for dilated cardiomyopathy(DCM). CNKI, Wanfang, VIP, SinoMed, PubMed, Web of Science, EMbase, Cochrane Library, ProQuest, Cochrane Central Register of Controlled Trials, ClinicalTrials.gov were searched for the randomized controlled trial(RCT) from the inception to January 2024.

Increased epicardial adipose tissue is associated with left ventricular reverse remodeling in dilated cardiomyopathy.

Background: Epicardial adipose tissue (EAT) has been suggested to play paradoxical roles in patients with heart failure. The role of EAT in dilated cardiomyopathy (DCM) patients remains unclear. We aimed to assess the associations between the dynamic changes EAT and left ventricular reverse remodeling (LVRR) in DCM patients based on baseline and follow-up CMR.

Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department.

Background: The utility of diagnostic genetic testing in cardiomyopathy has grown significantly, due to the discovery of novel genes and greater awareness among healthcare professionals. However, a substantial proportion of cases (around 50%) yield no causative genetic variants or have variants of unknown significance (VUS), limiting their use in clinical management and familial screening. The increase in data quantity and quality in reference databases, coupled with variant interpretation guidelines, allows for periodic reanalysis of VUS, potentially reducing diagnostic gaps.

BAG-3 Mutation Dilated Cardiomyopathy With Left Ventricular Noncompaction in Young Healthy Adult.

Cardiomyopathies are generally divided into ischemic and nonischemic types. Dilated cardiomyopathies, which are a type of nonischemic cardiomyopathy, may have a trait of left ventricular noncompaction. We present the case of a 34-year-old man with new-onset decompensated heart failure and left ventricular noncompaction from a BAG3 (Bcl-2 associated athanogene 3) truncating mutation.

Protective effect of UDCA against IL-11- induced cardiac fibrosis is mediated by TGR5 signalling.

Introduction: Cardiac fibrosis occurs in a wide range of cardiac diseases and is characterised by the transdifferentiation of cardiac fibroblasts into myofibroblasts these cells produce large quantities of extracellular matrix, resulting in myocardial scar. The profibrotic process is multi-factorial, meaning identification of effective treatments has been limited. The antifibrotic effect of the bile acid ursodeoxycholic acid (UDCA) is established in cases of liver fibrosis however its mechanism and role in cardiac fibrosis is less well understood.

Ambiguous Clinical Presentations and Imaging Findings in Genetic Dilated Cardiomyopathy.

This case series underscores the crucial role of genetic testing and a multidisciplinary approach to the management of genetic dilated cardiomyopathy. It also highlights the importance of distinguishing dilated cardiomyopathies from other cardiomyopathies to personalize patient care.

The clinical utility of cardiac myosin inhibitors for the management of hypertrophic cardiomyopathy: a scoping review.

Hypertrophic cardiomyopathy (HCM) is an inherited condition characterized by left ventricular, non-dilated hypertrophy in the absence of another secondary underlying cause. There has been an ongoing increase in the diagnosis of HCM over the past couple of decades, prompting further work in the area of pharmacological and interventional therapies. This scoping review aimed to summarize the traditional therapeutic options for HCM and to explore emerging research on novel cardiac myosin inhibitors (CMIs) as a new option for pharmacologic management of HCM.

Much More Than a Stroke: Emery-Dreifuss Muscular Dystrophy Type 2 Revealed by Ischemic Stroke.

Emery-Dreifuss muscular dystrophy type 2 (EDMD2) is a rare autosomal dominant neuromuscular disorder caused by LMNA gene mutations and characterized by progressive skeletal muscle weakness and significant cardiac involvement. We report the case of a 45-year-old woman who presented with sudden-onset, left-sided hemiparesis and dysarthria. Initial imaging was unremarkable, and symptoms transiently improved, suggesting a transient ischemic attack.

End-stage heart failure and heart transplant in cardiac sarcoidosis: a case series.

Background: Diagnosing cardiac sarcoidosis (CS) is challenging. Immunosuppressive therapies are less effective in end-stage disease, and often heart transplant (HT) is the only available option. We present a series of advanced CS cases, requiring HT, along with a review of the literature evidence in this field.

Heart failure of very rare aetiology-haemochromatosis Type 3: a case report.

Background: Haemochromatosis is a pathological condition characterized by the accumulation of iron in parenchymal organs, leading to toxic damage and dysfunction. Cardiac haemochromatosis represents one of the rare causes of severe heart failure (HF) that can be potentially prevented with targeted treatment.

Case Summary: We present the case of a 41-year-old female who was hospitalized for decompensated HF.

A potential pathogenic mutation of LAMA4 in a Chinese family with dilated cardiomyopathy and conduction system disease.

Dilated cardiomyopathy (DCM) is characterized by ventricular dilation and poor systolic function. Approximately half of idiopathic DCM cases are assigned to genetic causes in familial or apparently sporadic cases, and more than 50 genes are reported to cause DCM. However, genetic basis of most DCM patients still keeps unknown and require further study.

Unveiling the Future of Cardiac Care: A Review of Gene Therapy in Cardiomyopathies.

For years, the treatment of many cardiomyopathies has been solely focused on symptom management. However, cardiomyopathies have a genetic substrate, and directing therapy towards the pathophysiology rather than the epiphenomenon of the disease may be a winning strategy. Gene therapy involves the insertion of genes or the modification of existing ones and their regulatory elements through strategies like gene replacement and gene editing.

Novel Mutation Lys30Glu in the Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin.

Pediatric dilated cardiomyopathy (DCM) is a rare heart muscle disorder leading to the enlargement of all chambers and systolic dysfunction. We identified a novel de novo variant, c.88A>G (p.

Three Novel Pathogenic Variants in Unrelated Vietnamese Patients with Cardiomyopathy.

: Cardiomyopathy, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), is a major cause of heart failure (HF) and a leading indication for heart transplantation. Of these patients, 20-50% have a genetic cause, so understanding the genetic basis of cardiomyopathy will provide knowledge about the pathogenesis of the disease for diagnosis, treatment, prevention, and genetic counseling for families. : This study collected nine patients from different Vietnamese families for genetic analysis at The Cardiovascular Center, E Hospital, Hanoi, Vietnam.